...MOUNTAIN VIEW CA January 11 2011 23andMe has released its first an... Our understanding of the human genome is accelerating at a phenomenal...Customers of 23andMe have the opportunity to learn about how their gen...While 23andMe provides updates on genetic research on a regular basis...

MOUNTAIN VIEW, CA January 11, 2011 23andMe has released its first annual list of what it felt to be the 10 most interesting and significant genetic findings in 2010, as part of an ongoing journey to understand the role of genetics in personal health and human development.

"Our understanding of the human genome is accelerating at a phenomenal rate," stated Anne Wojcicki, co-founder and CEO of 23andMe. "Below we have compiled a list of our top ten favorite genetic discoveries from 2010. We look forward to exploring more discoveries in 2011."

Customers of 23andMe have the opportunity to learn about how their genetics can influence their individual health traits, risk for developing certain diseases and conditions, reactions to a variety of medications, and ancestry. Throughout the year, 23andMe monitors scientific publications for studies that provide exciting glimpses into these areas. The company provides information on these developments to its customers through continual updates to their Health and Traits reports, as well as "SNPwatch" postings to the company's public blog, "The Spittoon."

While 23andMe provides updates on genetic research on a regular basis, it recognizes and cautions that in most cases more studies are needed before the research can provide information of specific value to individuals. 23andMe therefore states that the studies described in The Spittoon's SNPwatch series are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice and individuals should always seek the advice of their physician or other appropriate healthcare professional with any questions regarding diagnosis, cure, treatment or prevention of any medical condition.

REFLECTING ON 2010

1. Genetics influences whether your body shape is "apple" or "pear" and which shape you are has implications for disease.

If you've been looking at an apple or pear body shape in the mirror, take a closer look at your genetic variants. This fall, 23andMe reported on new research connecting common genetic variants with propensity towards apple- and pear- body shapes. A large analysis by the Genetic Investigation of Anthropometric Traits (GIANT) consortium investigated how genetics influence waist and hip size in nearly 200,000 people from more than 50 studies. Published in Nature Genetics, the report identified 14 single nucleotide polymorphisms (SNPs, or common genetic variants) 13 new and one previously reported associated with body fat distribution. These findings have health implications because "apples", whose weight concentrates around their middles, appear to be at greater risk for developing heart disease and type 2 diabetes than their pear counterparts.

In addition to the exciting new genetic associations, results from this study suggest that genetics play a more significant role in determining body fat distribution in women than in men. As with obesity and many other conditions with a strong environmental component, genes only account for a small piece of the puzzle underlying variability in body fat distribution. Even so, this study made an interesting observation: the variants associated with body fat distribution (measured by waist-hip-ratio) in their study subjects appeared to be mostly distinct from those variants associated with overall body fat content (measured by body mass index (BMI)). Since the location of body fat plays an important role in disease risk, a better understanding of the genetic risk factors underlying increased waist and hip size may lead to improved therapies or lifestyle recommendations. 23andMe customers are able to view data for nine variants associated with apple versus pear body shape from this study.

New regions of the genome associated with childhood asthma, a growing public health concern throughout the US affecting more than seven million children, were found by researchers from the Center for Applied Genomics at The Children's Hospital of Philadelphia (CHOP) and the GABRIEL consortium, as published in two studies in the New England Journal of Medicine. In the first study, analysis of DNA from about 1,700 children with asthma and 3,500 controls, all of European ancestry, identified several genetic variants on chromosome 1 associated with the risk of developing childhood asthma. Many of these same variants were then also found to be associated with risk for asthma in a sample of more than 1,600 African American children with asthma and 2,045 controls. All of the newly identified variants are located near the gene that encodes DENND1B, a protein known to be involved in the body's response to foreign particles.

The chromosome 1 variants identified by the CHOP researchers affected the odds of childhood asthma in different ways depending on ethnicity. Versions of the SNPs associated with increased risk in African Americans were associated with decreased risk in the European sample. This is not unusual in genetic studies, and often reflects differences in the genetic backgrounds of different populations.

In the second study, researchers identified associations between variants on chromosomes 2, 6, 9, 15, and 22 and asthma in individuals with European ancestry, with stronger effects for childhood asthma. They also observed that a previously reported association between a region on chromosome 17 and asthma was specific to childhood asthma only. When the researchers looked for genetic associations with allergy susceptibility (a condition that is often linked to asthma) they found very little overlap, suggesting that allergy sensitivity may be an effect of asthma rather than its cause.

The two studies' findings could lead eventually to the development of new types of treatments for childhood asthma. Previous research linking genetic variants on chromosome 17 with the risk for childhood asthma in Europeans suggested that these variants have an effect only in children who are exposed to tobacco smoke. More research will be needed to work out the details, but the importance of chromosome 17 in asthma was further supported by both of the current studies, which replicated the previous findings in addition to identifying new variants associated with the disease.

Rheumatoid arthritis is a common autoimmune disease in which the individual's own immune system attacks the lining of the joints, causing stiffness and muscle aches. Like other autoimmune diseases, development of rheumatoid arthritis is likely caused by a complex combination of genetic and environmental factors. Recent research into the genetics of the disease has identified many of the genetic factors, and new studies continue to implicate additional variants that may influence risk.

This year, SNPwatch presented a pair of studies published in Nature Genetics which found several new genetic variants associated with rheumatoid arthritis. A research team in Japan at the RIKEN Center for Genomic Medicine identified a variant, rs3093024, associated with rheumatoid arthritis risk in Japanese individuals. The second study, from Brigham and Women's Hospital in Boston, confirmed the same association in individuals with European ancestry. In both studies, each copy of the A version of the variant increased an individual's odds of the disease by 1.1 to 1.2 times.

The RIKEN team demonstrated that the different versions of rs3093024, already connected to risk of Crohn's disease, affect the behavior of the CCR6 gene, providing a potential biological explanation for the variant's contribution to rheumatoid arthritis risk. The Brigham and Women's team also found several other genomic regions associated with rheumatoid arthritis in people with European ancestry, some of which had not yet been linked to autoimmune disease.

Alzheimer's disease is the most common cause of dementia in people 65 years and older, and will become an increasing health concern as the population of the United States (and many other nations) ages. Currently more than five million Americans are thought to have the disease, but by the year 2050 that number is estimated to reach 14 million unless a cure or prevention method is developed.

Until very recently, mutations in only one gene APOE had been conclusively associated with the more common late-onset form of Alzheimer's (there are other mutations associated with early-onset, familial Alzheimer's disease). In the last few years, however, research groups studying large numbers of people have identified variants in several new genes with small effects on the disease.

As 23andMe reported in SNPwatch, researchers pulled together the results of several studies to find new Alzheimer's associated risk variants. The scientists, whose results appear online in the Journal of the American Medical Association, suggest that these variants may be important for unraveling the underlying biology of Alzheimer's, which will be essential in the quest to find new methods of treatment. The combined analysis also provided support for previously identified associations in the CLU and PICALM genes, but failed to confirm a third previously reported association in the CR1 gene with Alzheimer's disease.

Researchers from the CHARGE, GERAD1 and EADI1 Alzheimer's research consortia combined data from tens of thousands of people with European ancestry. The results of their analysis implicated SNPs rs744373 near the BIN1 gene and rs597668 near theEXOC3L2/BLOC1S3/ MARK4 genes. The BIN1 gene encodes a protein that is highly expressed in the brain and known to be important in processes that are disrupted by the plaques that form in the brains of people with Alzheimer's. Two of the genes near rs597668, BLOC1S3 and MARK4, encode brain proteins that are also involved in processes that are disrupted in Alzheimer's disease. The MARK4 protein in particular is interesting because it interacts with tau, the protein responsible for the tangles seen in the brains of people with Alzheimer's.

Although risk models that incorporated an individual's information for the two replicated CLU and PICALM gene regions did not substantially improve prediction compared to a traditional model using only APOE status, age and sex, Nancy Pedersen of the Karolinska Institute in Sweden, points out in an accompanying editorial that this finding is not surprising given the small effect of these SNPs on risk and "only verifies the notion that AD is a polygenic disorder; i.e., that potentially tens of thousands of risk alleles, each with a small effect, are important for liability to disease. What is remarkable is that the single gene APOE is as important as it is for this complex disorder, and that right now, the most important thing doctors can do is encourage people to make lifestyle changes, especially those that improve cardiovascular health, that may reduce the risk of dementia or at least postpone it."

The old adage, "take two aspirin and call me in the morning," doesn't work as well as we might think. It turns out that one size doesn't fit all when it comes to drug response, and for some people, certain drugs might be more effective, not work at all, or even produce serious side effects. The growing body of pharmacogenomics research has helped us understand that, at least in part, genetics play a role in how well some drugs work for different people. The 23andMe Drug Response reports link customers' genetics to the way they might respond to certain drugs and medications. The results range from whether you're likely to benefit from a drug, need a different dose due to sensitivity, experience toxic or adverse effects, or even have increased risk for other conditions. 23andMe cautions that its Drug Response reports should not be used to independently establish, abolish, or adjust medical treatment and medications but should be discussed with your physician. Only a medical professional can determine whether a particular drug or dose is appropriate for you.

In addition to connecting customers' genetics to the latest research in pharmacogenomics, 23andMe is actively researching the genetic basis underlying differences in individuals' responses to drugs. As the year drew to a close, 23andMe announced that, with funding from the National Institutes of Health, it is launching a multi-part pharmacogenomic research project. The first phase of the project will attempt to replicate known genetic effects that influence the efficacy and tolerability of three classes of medications: Warfarin, a commonly prescribed blood thinner; proton pump inhibitors, the most frequently prescribed medications for acid reflux; and nonsteroidal anti-inflammatory drugs (NSAIDs) such as aspirin, ibuprofen, and naproxen.

In 2007 and again in 2010, the FDA updated the labeling for warfarin to include information about how variations in two genes, CYP2C9 and VKORC1, can impact a patient's optimal dose of the drug. The latest update provided initial dosage recommendations for patients with different variant combinations. Studies are ongoing to determine the cost-benefits of using genetic testing to improve drug dosing; the results of such studies will influence whether and how quickly personal genetic information becomes a routine part of medical care. In August, The Spittoon covered these developments with an in-depth perspective of the complicated history and potential future of pharmacogenomics.

As the first baby boomers begin to turn 65 and qualify for Medicare, 23andMe reflected on a genome-wide association study of extreme longevity published this year in the journal Science which received a lot of press attention. At first glance the results appeared quite extraordinary: the authors identified 70 loci with genome-wide significant evidence for association with living past the age of 100, and they constructed a SNP-based model for predicting exceptional longevity that had 77% accuracy in an independent set of individuals. However, a closer reading by 23andMe pointed to some of the pitfalls in analyses of genome-wide datasets.

23andMe found several reasons for skepticism about the results. Another genome-wide study reported no significant associations with longevity, suggesting there may have been genotyping quality control problems in the new results, and some routine quality control checks did not appear to have been done. In addition, a preliminary analysis of the proposed 150-SNP model for predicting longevity indicated that it is not predictive in the 23andMe community.

23andMe expects that most of the results of this study will not have the same longevity as its participants. In genetics, as with most things in life, if a result seems too good to be true, it probably is. That said, the study did contain some interesting tidbits, such as the association of rs2075650 near the APOE gene with longevity. This gene is an established susceptibility gene for Alzheimer's disease.

Newman AB et al. (2010) A Meta-analysis of Four Genome-Wide Association Studies of Survival to 90 Years or Older: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium. J Gerontol A Biol Sci Med Sci. 65A(5): 478-487.

7. Baby's First Tooth May Be A Health Predictor

Some 23andMe SNPwatches focus not on what's new to be learned in your personal genetic data, but on what we can learn about human development and health through genetics. So it was fascinating to learn that baby's first tooth is more than a life event to post on Facebook or share with the grandparents. This year SNPwatch shared how researchers identified several genetic variations associated with the timing of a baby's first tooth and the number of teeth at age one as published in the journal PLoS Genetics.

All of the SNPs associated with first tooth eruption and teeth at age 1, which were identified in this study of 6,000 people who had been followed by epidemiologists since early in their mothers' pregnancies, are located in or around genes known to have roles in organ formation, growth and development, or cancer, thus suggesting that studies of teething and other aspects of infant development may have far reaching implications. As the study authors explained, "the discoveries of genetic and environmental determinants of human development will help us to understand the development of many disorders which appear later in life. We hope also that these discoveries will increase knowledge about why fetal growth seems to be such an important factor in the development of many chronic diseases."

8. Before you call that relative a "Neanderthal," some more of what we've learned about our distant past

Many 23andMe customers are drawn by interest in their ancestry, confirming family history and sometimes finding unexpected family lines. But what about evidence of Neanderthal DNA in your genome? This fall, a study of the Neanderthal genome, published in the journal Science presented strong evidence from genome sequencing that humans and Neanderthals interbred.

John Timmer from Ars Technica summarizes scientists' current thinking on this topic well, saying the evidence
"became apparent when the Neanderthal genome was paired against human genomes from different parts of the globe. The Neanderthal DNA consistently matched European and Asian samples better than it did African; the difference was small, but consistent. It suggested that the Neanderthals, which were restricted to Europe and Asia at the time modern humans originated in Africa, had interbred with humans once they began migrating out of Africa.

Because African human populations are older, they tend to have more divergent genomes. But the human-Neanderthal split is older still, so the authors figured that any areas of the genome where variation was larger in populations outside of Africa may have entered the human genome through interbreeding. If they did arise through interbreeding, then the non-African segments should match Neanderthals. Researchers found at least 10 regions that fit these predictions.

Although they can't rule out the possibility that modern humans had already started diverging from Neanderthals before leaving Africa, the research team favors the idea of interbreeding in the Mid-East as the first modern humans left Africa. This would ensure that both the Asian and European populations picked up some Neanderthal DNA."

So you may not have been too far from the truth when you referred to your cousin as a Neanderthal!

The Spittoon also reported on a study published in Nature that used tufts of hair rescued from the permafrost in Greenland and then tucked away in a basement in Denmark for more than 20 years to give scientists their first glimpse into the genetics of an ancient human.

Eske Willerslev and Morten Rasmussen of the Centre for GeoGenetics at the Natural History Museum of Denmark and the University of Copenhagen sequenced 80% of the genome of a man from the Saqqaq Culture who walked the earth about 4,000 years ago. By comparing this ancient DNA sequence to what is known about the genetics of modern humans, the researchers were able to piece together a picture of what the man they call Inuk ("human" or "man" in Greenlandic) likely looked like, where his people came from, and how he's related to modern populations.

More importantly this effort proved that full genome sequence analysis of ancient samples is feasible and is expected to bring about an explosion of work in the field, from sequencing DNA from South American mummies to investigate population history and genetic diversity of Native Americans to sequencing ancient human DNA to reveal when certain genetic diseases became prevalent in different populations.

Do you share genetic characteristics with Inuk? 23andMe customers can check their raw data for genetic variants influencing blood type, eye and hair color, baldness, BMI, earwax type, hair thickness, shovel-graded teeth, and cold adaptation, and compare their values to Inuk's using the table in the Spittoon post.

As the 2010 Census measured the continued increase in the US Latino population over three decades, an interesting study this year reported in the Proceedings of the National Academy of Sciences investigated DNA from 100 people, each with ancestry from one of four Latin American populations: Colombian, Dominican, Ecuadorian, and Puerto Rican. History tells us to expect that these Latino populations should be a mixture of Native American, European, and African populations. By comparing the Latino DNA with reference individuals' DNA from these three source populations, using an analysis similar to that of 23andMe's Ancestry Painting feature, the researchers found stark genetic differences between the Latino groups, and between individuals within each group.

The study found that Latino populations differ markedly in the contribution of the source populations. In Ecuador and Colombia, there is typically little African contribution to ancestry, and most individuals are genetic mixes of European and Native American. But in the Caribbean locations of Puerto Rico and the Dominican Republic, at the western reach of the African slave trade, people typically include substantial African ancestry.

Besides being a fascinating exploration of natural history, this study suggests that there may be practical consequences to Latin American genetic diversity. This is because medical genetic research can be more difficult in diverse populations. In the case of association studies, the name of the game is to study two groups of people who differ only with respect to whether they have the disease of interest or not; people in the disease group should have the same mix of age, gender, ancestry, etc. as in the non-disease group. The genetic diversity of Latin American populations may hinder such studies because of the difficulty in building genetically-matched groups. The study's authors suggest that new techniques may need to be developed to carry out genetic research in Latino populations.

It was a great year for 23andMe, as it proudly announced that its new web-based research paradigm (23andWe) works and unveiled its first peer-reviewed scientific study. The results, published last spring in PLoS Genetics, encompassed replications of previous findings as well as newly discovered genetic associations. 23andWe is a web-based, participant-driven research framework designed to facilitate the rapid recruitment and phenotyping of participants for many studies at once, thus reducing the time and money needed to make new discoveries. In this peer-reviewed paper 23andMe confirmed that self-reported data from customers has the potential to yield data of comparable quality as data gathered using traditional research methods, moving scientific research forward, faster.

Over 9,000 people contributed data to the study of 22 separate traits. Novel SNP associations were revealed for hair curl, asparagus anosmia (the inability to detect the scent of certain asparagus metabolites in urine), the photic sneeze reflex (the tendency to sneeze when entering bright light), and freckling. Previously identified genetic associations between nine genes and certain pigmentation-related traits (hair color, eye color, and freckling) were replicated.

At the annual American Society of Human Genetics meeting in November, 23andMe scientists also announced preliminary results from several studies, including research into the genetics of Parkinson's disease, infectious disease and physical traits; accuracy and performance of modeling risk using common genetic variants; and replication of additional genetic associations on a large scale. In the spring, 23andMe also launched a new 23andWe community devoted to advancing research into sarcoma, a rare set of cancers that affect the bone and connective tissues.

The year closed with the launch of 23andMe's first NIH funded study after receiving a NIH Small Business Innovative Research Grant (SBIR) to validate its web-based approach to pharmacogenomics research. The NIH is the largest source of medical research funding in the world. Through its support of innovative training programs and scientific projects, the NIH facilitates medical discoveries that lead to improved health and quality of life. NIH grants are highly coveted by industry scientists and academics alike. In addition to the funding itself, the NIH grant demonstrates support and recognition of our work by a leading governmental research agency.

The first phase of this effort is similar to that first PLoS research publication: to demonstrate that 23andMe can replicate known genetic associations using the web-based survey data volunteered by its customers, now numbering over 60,000. The subsequent pharmacogenomics project is distinct, however, in that collecting self-reported medication information via the web will present unique challenges. 23andMe recognizes that recall of medication use and side effects may be poor and difficult for individuals to accurately report. The use of multiple medications may also complicate efforts to isolate which medications cause specific responses or side effects. Still, the potential rewards are tremendous validation of a large-scale, cost-effective, and rapid approach for discovering new pharmacogenomic markers would be a significant contribution to personalized medicine.

As 2011 proceeds, 23andMe looks forward with excitement about receiving this funding for one of our top research priorities the advancement of personalized medicine through genetic studies and in the spirit of the 23andWe research paradigm, will continue to work together with its participants to make research discoveries and learn more about the information encoded in our genomes.

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